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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 (ARVD8)
Alias:
Arrhythmogenic Right Ventricular Dysplasia 8
Arrhythmogenic Right Ventricular Cardiomyopathy 8
Arvd8
Arvc8
Familial Arrhythmogenic Right Ventricular Dysplasia 8
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
心律失常性右心室发育不良,家族性8型,也称为心律失常性右心室发育不良8型,与掌跖角化病II型和羊毛状皮肤脆弱综合征有关。与心律失常性右心室发育不良,家族性8型相关的重要基因是DSP(Desmoplakin),其相关通路/超级通路包括神经系统发育和DREAM抑制和杜氏醇表达。相关组织包括心脏和皮肤,相关表型为右心室心肌病和早搏。
Related ID:
MALACARDS:ARR050
OMIM:607450
MESH:D019571
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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12
120
86
ARR050
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Score
Mutations
No data available
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Name
CAS Number
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No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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